Canonical Allele Identifier: CA130332

Gene: ECEL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232484156G>T , CM000664.2:g.232484156G>T	GRCh38
NC_000002.11:g.233348866G>T , CM000664.1:g.233348866G>T	GRCh37
NC_000002.10:g.233057110G>T	NCBI36
NG_034065.1:g.8704C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004826.4:c.1252C>A MANE Select	NP_004817.2:p.Arg418Ser
ENST00000304546.6:c.1252C>A MANE Select	ENSP00000302051.1:p.Arg418Ser
NM_001290787.1:c.1252C>A	NP_001277716.1:p.Arg418Ser
NM_001290787.2:c.1252C>A	NP_001277716.1:p.Arg418Ser
NM_004826.3:c.1252C>A	NP_004817.2:p.Arg418Ser
ENST00000304546.5:c.1252C>A	ENSP00000302051.1:p.Arg418Ser
ENST00000409941.1:c.1252C>A	ENSP00000386333.1:p.Arg418Ser
ENST00000482346.1:n.1563C>A